Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. (Record no. 21719881)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01893 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516090301.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201303s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-5883 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jns.2012.03.024 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Ulzi, Gianna |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130328 |
| 245 00 - TITLE STATEMENT | |
| Title | Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the neurological sciences |
| Date of publication, distribution, etc. | Jul 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 65-71 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Membrane |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chloride Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electric Conductivity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Italy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myotonia Congenita |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Patch-Clamp Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lecchi, Marzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sansone, Valeria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redaelli, Elisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corti, Eleonora |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saccomanno, Domenica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pagliarani, Serena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corti, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raimondi, Monika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Angelo, Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Modoni, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bresolin, Nereo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meola, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanke, Enzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Comi, Giacomo P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lucchiari, Sabrina |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the neurological sciences |
| Related parts | vol. 318 |
| -- | no. 1-2 |
| -- | p. 65-71 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jns.2012.03.024">https://doi.org/10.1016/j.jns.2012.03.024</a> |
| Public note | Available from publisher's website |
No items available.